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Meckel’s diverticulum complications in three first-degree relatives: time to rethink familial predisposition?

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Letter to the Editor

Meckel’s diverticulum complications in three first-degree relatives: time to rethink familial predisposition?

Ioannis Patoulias1, Eleni Kogia1, Thomas Feidantsis1, Panagiota Michou2, Maria-Styliani Kalogirou3, Spyridon Mitsoulis4, Dimitrios Ioannis Patoulias5

1 First Department of Paediatric Surgery, General Hospital “G. Gennimatas”, Aristotle University of Thessaloniki, Thessaloniki, Greece

2Department of Paediatrics, General Hospital “G. Gennimatas”, Thessaloniki, Greece

3 Second Propaedeutic Department of Internal Medicine, General Hospital “Hippokration”, Aristotle University of Thessaloniki, Thessaloniki, Greece

4Department of Internal Medicine, General Hospital “G. Gennimatas”, Thessaloniki, Greece

5First Department of Internal Medicine, General Hospital "Hippokration", Thessaloniki, Greece

Gastroenterology Rev 2020; 15 (1): 80–81 DOI: https://doi.org/10.5114/pg.2020.93634

Address for correspondence: Dimitrios Ioannis Patoulias MD, First Department of Internal Medicine, General Hospital “Hippokration”, 49 Konstantinoupoleos St, 54642 Thessaloniki, Greece, phone: +30 6946900777, e-mail: dipatoulias@gmail.com

Meckel’s diverticulum represents a remnant of the omphalomesenteric duct, which results from the failure of the duct to obliterate during the 5th–7th gestation- al week [1]. It is identified in 0.3–2.9% of the general population, whereas complications develop in 4.2–9.0%

of the affected patients [2, 3]. Tc99m scintigraphy con- stitutes the most widely used imaging modality, with sensitivity and specificity of 80–100% and 50–100%, respectively [3].

After a systematic and comprehensive review of the relevant literature concerning the familial occurrence of Meckel’s diverticulum in specific and omphalomes- enteric duct remnants in general, we observed the ex- treme rarity of the presented case.

Herein, we present three cases of Meckel’s divertic- ulum complications affecting three first-degree relatives (son, father, grandmother).

A male patient, 16 years old, was admitted to the Emergency Department due to periumbilical abdomi- nal pain and recurrent episodes of vomiting during the last 24 h. During physical examination, the presence of tenderness and positive rebound sign in the right lower quadrant of the abdomen were identified. Laboratory exams revealed the presence of polymorphonuclear leu- kocytosis and elevated C-reactive protein levels.

Therefore, after completion of preoperative evalu- ation, the patient underwent laparotomy under gen- eral endotracheal anaesthesia. After Lanz incision, ap-

pendicectomy was performed. We then retracted the ileum to the surgical field, and we identified the pres- ence of an inflamed Meckel’s diverticulum with thick wall and loose adhesions to the adjacent mesentery, 3 cm in length, and with a base diameter of 1.4 cm, found approximately 80 cm from the ileocecal valve (Figure 1). After opening the surgical specimen, we rec- ognised the presence of erosions on the basis of the inflamed Meckel’s diverticulum (Figure 2). Thus, we per- formed a sphenoid resection of the basis of Meckel’s diverticulum and then an end-to-end anastomosis in two layers. Histopathological examination confirmed the diagnosis of inflammation of Meckel’s diverticulum.

The patient had an uncomplicated postoperative course and was discharged home in good general condition three days after surgery.

After thorough investigation of our patient’s family history, we found that both his father and his grand- mother, aged 41 and 68 years, respectively, had suffered in the past from Meckel’s diverticulum complications.

The father experienced gastrointestinal tract bleeding at the age of 2 years diagnosed with preoperative Tc99m scintigraphy. The grandmother underwent explorative laparotomy at the age of seven years in the context of acute abdomen diagnosis; inflammation of Meckel’s diverticulum was documented. Therefore, appendicec- tomy and resection of Meckel’s diverticulum were per- formed.

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Meckel’s diverticulum complications in three first-degree relatives: time to rethink familial predisposition? 81

Gastroenterology Review 2020; 15 (1) Meckel’s diverticulum is identified either in the

context of complications development (obstruction, in- tussusception, diverticulitis, perforation, haemorrhage, neoplasia, fistula) or as an incident finding during ex- ploratory laparotomy [2, 3].

According to Matsukuma et al., familial incidence of Meckel’s diverticulum is 1/2500 families [4]. After systematic and comprehensive research of the relevant literature, we found 15 cases of familial occurrence of Meckel’s diverticulum, published between 1955 and 1994; however, a complication of Meckel’s diverticulum was identified only in 5 cases [4–6].

Based on current knowledge, no familial predispo- sition for the presence of Meckel’s diverticulum and its complications can be documented [2]. Through the present case report, we would like to shed further light on this interesting and unanswered issue. Future stud- ies should focus on answering the following, remaining questions:

1. Is there a genetic background for the familial occur- rence of Meckel’s diverticulum and its complications?

2. What is the value of the presymptomatic diagnosis of Meckel’s diverticulum presence in patients with positive familial history?

3. What is the value of targeted and prompt investi- gation for the presence of Meckel’s diverticulum in patients with highly suspected symptomatology and positive familial history?

Conflict of interest

The authors declare no conflict of interest.

References

1. Sagar J, Kumar V, Shah DK. Meckel’s diverticulum: a systematic review. J R Soc Med 2006; 99: 501-5.

Figure 1. Meckel’s diverticulum with macroscopic

features of inflammation Figure 2. Presence of erosions at the base of Meckel’s diverticulum

2. Pirzada U, Tariq H, Azam S, et al. A rare cause of abdominal pain in adults: Meckel’s diverticulitis. Case Rep Gastroenterol 2018; 12: 709-14.

3. Hansen CC, Søreide K. Systematic review of epidemiology, pre- sentation, and management of Meckel’s diverticulum in the 21st century. Medicine 2018; 97: e12154.

4. Matsukuma Y, Matsuo Y, Sakaguchi M, et al. A case of siblings with Meckel’s diverticulum diagnosed before operation. Acta Paediatr Jpn 1994; 36: 291-3.

5. Primrose JM, Henry RB. Symptomatic familial Meckel’s divertic- ulum: two case reports and literature review. S D J Med 1977;

30: 7-9.

6. Lewenstein HJ, Levenson SS. Familial occurrence of Meckel’s diverticulum. N Engl J Med 1963; 268: 311-2.

Received: 1.09.2019 Accepted: 1.10.2019

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